Variant report
| Variant | rs4531492 |
|---|---|
| Chromosome Location | chr11:74771478-74771479 |
| allele | C/T |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:4)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
(count:4 , 50 per page) page:
1
| No. | Distal block | Cell Line | Cell type | Cell Stage |
|---|---|---|---|---|
| 1 | chr11:74720213..74722321-chr11:74770764..74773550,2 | K562 | blood: | |
| 2 | chr11:74770127..74772846-chr11:74773872..74776209,2 | K562 | blood: | |
| 3 | chr11:74762519..74764058-chr11:74769921..74771618,2 | K562 | blood: | |
| 4 | chr11:74770400..74772058-chr11:74780541..74783446,2 | K562 | blood: |
| No data |
| No data |
| No data |
| Variant related genes | Relation type |
|---|---|
| ENSG00000234611 | Chromatin interaction |
rSNPs within LD-proxies of this variant (count:20)
| rs_ID | r2[population] |
|---|---|
| rs10793112 | 0.80[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs10899061 | 0.80[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs10899064 | 0.83[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs10899065 | 0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
| rs11236303 | 0.84[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11236304 | 0.84[AMR][1000 genomes];0.92[ASN][1000 genomes] |
| rs11236306 | 0.81[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs11236307 | 0.83[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11236309 | 0.84[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11236310 | 0.84[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11236311 | 0.85[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs11600328 | 0.84[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs12223822 | 0.85[AMR][1000 genomes];0.98[ASN][1000 genomes] |
| rs12226763 | 0.84[AMR][1000 genomes];0.96[ASN][1000 genomes] |
| rs4554917 | 0.83[AMR][1000 genomes];0.93[ASN][1000 genomes] |
| rs4944970 | 0.90[ASN][1000 genomes] |
| rs56885894 | 0.85[AMR][1000 genomes];0.98[ASN][1000 genomes] |
| rs7106757 | 0.80[AMR][1000 genomes];0.97[ASN][1000 genomes] |
| rs7109716 | 0.83[AMR][1000 genomes];0.99[ASN][1000 genomes] |
| rs7482760 | 0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes] |
Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | nsv897918 | chr11:74757641-74798928 | Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription | TF binding regionChromatin interactive region | 5 gene(s) | inside rSNPs | diseases |
mRNA abundance (count:20)
| SNP | Gene | Cis/trans | Tissue | Source |
|---|---|---|---|---|
| rs4531492 | XRRA1 | Cis_1M | lymphoblastoid | RTeQTL |
| rs4531492 | XRRA1 | cis | Nerve Tibial | GTEx |
| rs4531492 | XRRA1 | cis | Whole Blood | GTEx |
| rs4531492 | XRRA1 | cis | lung | GTEx |
| rs4531492 | XRRA1 | cis | Skin Sun Exposed Lower leg | GTEx |
| rs4531492 | RAB6A | cis | parietal | SCAN |
| rs4531492 | XRRA1 | cis | Stomach | GTEx |
| rs4531492 | CHRDL2 | cis | cerebellum | SCAN |
| rs4531492 | C11orf59 | cis | parietal | SCAN |
| rs4531492 | XRRA1 | cis | Esophagus Mucosa | GTEx |
| rs4531492 | XRRA1 | cis | Adipose Subcutaneous | GTEx |
| rs4531492 | XRRA1 | cis | Esophagus Muscularis | GTEx |
| rs4531492 | XRRA1 | cis | Muscle Skeletal | GTEx |
| rs4531492 | RN7SL239P | cis | Thyroid | GTEx |
| rs4531492 | XRRA1 | cis | lymphoblastoid | seeQTL |
| rs4531492 | KRTAP5-10 | cis | parietal | SCAN |
| rs4531492 | XRRA1 | cis | parietal | SCAN |
| rs4531492 | XRRA1 | cis | Thyroid | GTEx |
| rs4531492 | XRRA1 | cis | cerebellum | SCAN |
| rs4531492 | XRRA1 | cis | Artery Tibial | GTEx |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr11:74771200-74771600 | Enhancers | K562 | blood |
| 2 | chr11:74771400-74773400 | Weak transcription | H1 Derived Mesenchymal Stem Cells | ES cell derived |
| 3 | chr11:74771400-74774800 | Weak transcription | Adipose Derived Mesenchymal Stem Cell Cultured Cells | ES cell derived |
